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Items: 16

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
A3GALT2, ACOT11
+1226 more
Inversion
Bilateral polymicrogyria
GLikely pathogenic
ARTN, ATP6V0B
+279 more
Copy number loss
See cases
GPathogenic
ARTN, ATP6V0B
+253 more
Copy number loss
See cases
GPathogenic
C1orf50, CCDC30
+142 more
Copy number loss
See cases
GPathogenic
C1orf210, C1orf50
+91 more
Copy number loss
Epilepsy syndrome
GPathogenic
C1orf50, CCDC30
+43 more
Copy number loss
See cases
GLikely pathogenic
PPIH
(T127I +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PPIH
(S172L +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
C1orf210, C1orf50
+20 more
Deletion
not provided
GPathogenic
C1orf50, CCDC30
+9 more
Duplication
GLUT1 deficiency syndrome 1, autosomal recessive
GUncertain significance
A3GALT2, ADPRS
+202 more
Copy number gain
not specified
GPathogenic
AGL, AGMAT
+783 more
Copy number gain
Intellectual disability, mild
+1 more
GUncertain significance
KCNQ4, KDM4A
+179 more
Duplication
Charcot-Marie-Tooth disease dominant intermediate C
GUncertain significance
CD34, CD46
+2014 more
Copy number gain
See cases
GPathogenic
GPATCH2, GPATCH3
+2014 more
Copy number gain
See cases
GPathogenic
ARTN, ATP6V0B
+36 more
Copy number loss
See cases
GPathogenic
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